Publications

Lauffer P et al. Diagnosis and Management of Central Congenital Hypothyroidism.Front Endocrinol (Lausanne). 2021;12:686317. PMID: 34566885.

Sun Y et al. Loss-of-Function Mutations in IGSF1 Cause an X-Linked Syndrome of Central Hypothyroidism and Testicular Enlargement.Nat Genet. 2012;44(12):1375–81. PMID: 23143598.

Joustra SD et al. The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients. J Clin Endocrinol Metab. 2013;98(12):4942–52. PMID: 24108313.

Joustra SD et al. Igsf1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.J Clin Endocrinol Metab. 2016;101(4):1627–36. PMID: 26840047.

Joustra SD et al. Igsf1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction. J Clin Endocrinol Metab. 2020;105(3):e70–84. PMID: 31650157.

Bernard DJ et al. A Tale of Two Proteins: Betaglycan, IGSF1, and the Continuing Search for the Inhibin B Receptor. Trends Endocrinol Metab. 2020;31(1):37–45. PMID: 31648935.

Turgeon MO et al. Trh Action Is Impaired in Pituitaries of Male Igsf1-Deficient Mice.Endocrinology. 2017; 158(4):815–30. PMID: 28324000.

Brûlé E et al. Igsf1 Does Not Regulate Spermatogenesis or Modify Fsh Synthesis in Response to Inhibins or Activins.J Endocrine Soc. 2021; 5(4):bvab023. PMID: 33796801.

Bernard D et al. From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function.J Endocr Soc. 2018;2(3):220–31. PMID: 29594256.